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rs1057519441

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057519441(C;C)
Make rs1057519441(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position14683243
GeneC12orf60, GUCY2C
is asnp
is mentioned by
dbSNPrs1057519441
dbSNP (old)rs1057519441
ClinGenrs1057519441
ebirs1057519441
HLIrs1057519441
Exacrs1057519441
Gnomadrs1057519441
Varsomers1057519441
Maprs1057519441
PheGenIrs1057519441
Biobankrs1057519441
1000 genomesrs1057519441
hgdprs1057519441
ensemblrs1057519441
gopubmedrs1057519441
geneviewrs1057519441
scholarrs1057519441
googlers1057519441
pharmgkbrs1057519441
gwascentralrs1057519441
openSNPrs1057519441
23andMers1057519441
23andMe allrs1057519441
SNPshotrs1057519441
SNPdbers1057519441
MSV3drs1057519441
GWAS Ctlgrs1057519441
Max Magnitude0
ClinVar
Risk rs1057519441(C;C)
Alt rs1057519441(C;C)
Reference Rs1057519441(T;T)
Significance Pathogenic
Disease Abnormal biliary tract morphology Asplenia Duodenal atresia Reduced number of intrahepatic bile ducts
Variation info
Gene GUCY2C
CLNDBN Abnormal biliary tract morphology Asplenia Duodenal atresia Reduced number of intrahepatic bile ducts
Reversed 1
HGVS NC_000012.11:g.14836177A>G
CLNSRC
CLNACC RCV000416478.1,